AMIR HOSSEIN SAEIDIAN to Male
This is a "connection" page, showing publications AMIR HOSSEIN SAEIDIAN has written about Male.
Connection Strength
0.306
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Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genet Med. 2024 Nov; 26(11):101225.
Score: 0.038
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Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. Mol Genet Genomic Med. 2019 11; 7(11):e975.
Score: 0.027
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First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. Clin Exp Dermatol. 2018 Aug; 43(6):719-722.
Score: 0.024
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Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder. Am J Hum Genet. 2025 Jun 05; 112(6):1388-1414.
Score: 0.010
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DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia. J Clin Immunol. 2025 Mar 28; 45(1):85.
Score: 0.010
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Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clin Genet. 2025 Mar; 107(3):366-368.
Score: 0.010
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The Tehran longitudinal family-based cardiometabolic cohort study sheds new light on dyslipidemia transmission patterns. Sci Rep. 2024 02 27; 14(1):4739.
Score: 0.009
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High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. Transl Res. 2024 Apr; 266:49-56.
Score: 0.009
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Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency. J Invest Dermatol. 2022 09; 142(9):2435-2445.
Score: 0.008
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Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance. JAMA Dermatol. 2021 Dec 01; 157(12):1466-1471.
Score: 0.008
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Humans with inherited T?cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021 07 08; 184(14):3812-3828.e30.
Score: 0.008
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Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement. J Invest Dermatol. 2021 11; 141(11):2752-2756.
Score: 0.008
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Knockdown of SDR9C7 Impairs Epidermal Barrier Function. J Invest Dermatol. 2021 07; 141(7):1754-1764.e1.
Score: 0.007
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Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility. Sci Rep. 2020 12 10; 10(1):21622.
Score: 0.007
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Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA). J Clin Immunol. 2020 05; 40(4):637-642.
Score: 0.007
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Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. J Invest Dermatol. 2019 12; 139(12):2447-2457.e7.
Score: 0.007
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Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. Clin Infect Dis. 2019 05 17; 68(11):1938-1941.
Score: 0.007
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Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. J Hepatol. 2019 08; 71(2):366-370.
Score: 0.007
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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019 03; 40(3):288-298.
Score: 0.006
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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biol. 2019 08; 81:91-106.
Score: 0.006
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Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders. J Invest Dermatol. 2019 03; 139(3):522-527.
Score: 0.006
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The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to ?-papillomaviruses. J Exp Med. 2018 09 03; 215(9):2289-2310.
Score: 0.006
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Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. J Invest Dermatol. 2019 01; 139(1):241-244.
Score: 0.006
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Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Dermatol. 2019 10; 28(10):1118-1121.
Score: 0.006
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Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. Br J Dermatol. 2018 03; 178(3):e219-e221.
Score: 0.006
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A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017 12 06; 12(1):176.
Score: 0.006
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Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol. 2018 03; 66:22-33.
Score: 0.006
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Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. Eur J Hum Genet. 2017 11; 25(11):1282-1285.
Score: 0.006
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Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. J Invest Dermatol. 2017 12; 137(12):2649-2652.
Score: 0.006
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Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome. Am J Gastroenterol. 2017 Feb; 112(2):396-398.
Score: 0.006
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. J Invest Dermatol. 2017 03; 137(3):678-685.
Score: 0.006
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Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. J Invest Dermatol. 2017 03; 137(3):660-669.
Score: 0.006
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Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability. J Invest Dermatol. 2017 02; 137(2):525-528.
Score: 0.006
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KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. J Invest Dermatol. 2016 09; 136(9):1897-1901.
Score: 0.005